{ "uniprot_canonical_ac": "O43566-7", "uniprot_ac": "O43566", "uniprot_id": "RGS14_HUMAN", "mass": { "chemical_mass": 61447.0, "monoisotopic_mass": 61447.0 }, "refseq": { "ac": "NP_006471", "name": "regulator of G-protein signaling 14 isoform 1", "summary": "This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006471" }, "gene_names": [ { "name": "RGS14", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43566", "id": "O43566" }, { "name": "RGS14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006471", "id": "NP_006471" } ], "protein_names": [ { "name": "Regulator of G-protein signaling 14", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43566" }, { "name": "RGS14", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43566" }, { "name": "regulator of G-protein signaling 14 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006471", "id": "NP_006471" } ], "function": [ { "annotation": "Genetic Polymorphisms of RGS14 and Renal Stone Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_006471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006471" }, { "database": "PubMed", "id": "33309307", "url": "https://glygen.org/publication/PubMed/33309307" } ] }, { "annotation": "Human genetic variants disrupt RGS14 nuclear shuttling and regulation of LTP in hippocampal neurons.", "evidence": [ { "database": "RefSeq", "id": "NP_006471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006471" }, { "database": "PubMed", "id": "33410399", "url": "https://glygen.org/publication/PubMed/33410399" } ] }, { "annotation": "RGS14 expression in CA2 hippocampus, amygdala, and basal ganglia: Implications for human brain physiology and disease. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_006471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006471" }, { "database": "PubMed", "id": "36541898", "url": "https://glygen.org/publication/PubMed/36541898" } ] }, { "annotation": "RGS14 regulates PTH- and FGF23-sensitive NPT2A-mediated renal phosphate uptake via binding to the NHERF1 scaffolding protein.", "evidence": [ { "database": "RefSeq", "id": "NP_006471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006471" }, { "database": "PubMed", "id": "35307350", "url": "https://glygen.org/publication/PubMed/35307350" } ] }, { "annotation": "Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Besides, modulates signal transduction via G protein alpha subunits by functioning as a GDP-dissociation inhibitor (GDI). Has GDI activity on G(i) alpha subunits GNAI1 and GNAI3, but not on GNAI2 and G(o)-alpha subunit GNAO1. Has GAP activity on GNAI0, GNAI2 and GNAI3. May act as a scaffold integrating G protein and Ras/Raf MAPkinase signaling pathways. Inhibits platelet-derived growth factor (PDGF)-stimulated ERK1/ERK2 phosphorylation; a process depending on its interaction with HRAS and that is reversed by G(i) alpha subunit GNAI1. Acts as a positive modulator of microtubule polymerisation and spindle organization through a G(i)-alpha-dependent mechanism. Plays a role in cell division. Required for the nerve growth factor (NGF)-mediated neurite outgrowth. Involved in stress resistance. May be involved in visual memory processing capacity and hippocampal-based learning and memory.", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566#function" }, { "database": "PubMed", "id": "15917656", "url": "https://glygen.org/publication/PubMed/15917656" }, { "database": "PubMed", "id": "17635935", "url": "https://glygen.org/publication/PubMed/17635935" } ] }, { "annotation": "This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006471" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "72.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "75.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "80.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "63.13", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "75.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "63.15", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169220", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169220" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43566", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43566" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43566", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43566" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43566", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43566" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43566", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43566" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"MFRAQQLQIFNLMKFDSYARFVKSPLYRECLLAEAEGRPLREPGSSRLGSPDATRKKPKLKPGKSLPLGVEELGQLPPVEGPGGRPLRKSFRRELGGTANAALRRESQGSLNSSASLDLGFLAFVSSKSESHRKSLGSTEGESESRPGKYCCVYLPDGTASLALARPGLTIRDMLAGICEKRGLSLPDIKVYLVGNEQVGT", "length": 201, "header": "sp|O43566-4|RGS14_HUMAN Isoform 4 of Regulator of G-protein signaling 14 OS=Homo sapiens OX=9606 GN=RGS14 PE=1 SV=4 CANONICAL=O43566-7" }, "locus": {} }, { "isoform_ac": "O43566-5", "url": "", "sequence": { "sequence": "MFRAQQLQIFNLMKFDSYARFVKSPLYRECLLAEAEGRPLREPGSSRLGSPDATRKKPKLKPGKSLPLGVEELGQLPPVEGPGGRPLRKSFRRELGGTANAALRRESQGSLNSSASLDLGFLAFVSSKSESHRKSLGSTEGESESRPGKYCCVYLPDGTASLALARPGLTIRDMLAGICEKRGLSLPDIKVYLVGNEQKALVLDQDCTVLADQEVRLENRITFELELTALERVVRISAKPTKRLQEALQPILEKHGLSPLEVVLHRPGEKQPLDLGKLVSSVAAQRLVLDTLPGVKISKARDKSPCRSQGCPPRTQDKATHPPPASPSSLVKVPSSATGKRQTCDIEGLVELLNRVQSSGAHDQRGLLRKEDLVLPEFLQLPAQGPSSEETPPQTKSAAQPIGGSLNSTTDSAL", "length": 414, "header": "sp|O43566-5|RGS14_HUMAN Isoform 5 of Regulator of G-protein signaling 14 OS=Homo sapiens OX=9606 GN=RGS14 PE=1 SV=4 CANONICAL=O43566-7" }, "locus": {} }, { "isoform_ac": "O43566-6", "url": "", "sequence": { "sequence": "MPGKPKHLGVPNGRMVLAVSDGELSSTTGPQGQGEGRGSSLSIHSLPSGPSSPFLAFVSSKSESHRKSLGSTEGESESRPGKYCCVYLPDGTASLALARPGLTIRDMLAGICEKRGLSLPDIKVYLVGNEQKALVLDQDCTVLADQEVRLENRITFELELTALERVVRISAKPTKRLQEALQPILEKHGLSPLEVVLHRPGEKQPLDLGKLVSSVAAQRLVLDTLPGVKISKARDKSPCRSQGCPPRTQDKATHPPPASPSSLVKVPSSATGKRQTCDIEGLVELLNRVQSSGAHDQRGLLRKEDLVLPEFLQLPAQGPSSEETPPQTKSAAQPIGGSLNSTTDSAL", "length": 347, "header": "sp|O43566-6|RGS14_HUMAN Isoform 6 of Regulator of G-protein signaling 14 OS=Homo sapiens OX=9606 GN=RGS14 PE=1 SV=4 CANONICAL=O43566-7" }, "locus": {} }, { "isoform_ac": "O43566-7", "url": "", "sequence": { "sequence": "MPGKPKHLGVPNGRMVLAVSDGELSSTTGPQGQGEGRGSSLSIHSLPSGPSSPFPTEEQPVASWALSFERLLQDPLGLAYFTEFLKKEFSAENVTFWKACERFQQIPASDTQQLAQEARNIYQEFLSSQALSPVNIDRQAWLGEEVLAEPRPDMFRAQQLQIFNLMKFDSYARFVKSPLYRECLLAEAEGRPLREPGSSRLGSPDATRKKPKLKPGKSLPLGVEELGQLPPVEGPGGRPLRKSFRRELGGTANAALRRESQGSLNSSASLDLGFLAFVSSKSESHRKSLGSTEGESESRPGKYCCVYLPDGTASLALARPGLTIRDMLAGICEKRGLSLPDIKVYLVGNEQALVLDQDCTVLADQEVRLENRITFELELTALERVVRISAKPTKRLQEALQPILEKHGLSPLEVVLHRPGEKQPLDLGKLVSSVAAQRLVLDTLPGVKISKARDKSPCRSQGCPPRTQDKATHPPPASPSSLVKVPSSATGKRQTCDIEGLVELLNRVQSSGAHDQRGLLRKEDLVLPEFLQLPAQGPSSEETPPQTKSAAQPIGGSLNSTTDSAL", "length": 566, "header": "sp|O43566-7|RGS14_HUMAN Isoform 7 of Regulator of G-protein signaling 14 OS=Homo sapiens OX=9606 GN=RGS14 PE=1 SV=4 CANONICAL=O43566-7" }, "locus": { "chromosome": "5", "start_pos": 177372072, "end_pos": 177358025, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000408923.8", "url": "https://www.ensembl.org/id/ENST00000408923.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000386229.3", "url": "https://www.ensembl.org/id/ENSP00000386229.3" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 199, "end_pos": 199, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" } ], "site_lbl": "Ser199" }, { "start_pos": 203, "end_pos": 203, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" } ], "site_lbl": "Ser203" }, { "start_pos": 20, "end_pos": 20, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O43566", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43566" } ], "site_lbl": "Ser20" }, { "start_pos": 218, "end_pos": 218, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" }, { "database": "iPTMnet", "id": "O43566", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43566" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Ser218" }, { "start_pos": 243, "end_pos": 243, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43566", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43566" }, { "database": "PubMed", "id": "27920218", "url": "" } ], "site_lbl": "Ser243" }, { "start_pos": 260, "end_pos": 260, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43566", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43566" }, { "database": "PubMed", "id": "12534294", "url": "https://glygen.org/publication/PubMed/12534294" } ], "site_lbl": "Ser260" }, { "start_pos": 260, "end_pos": 260, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O43566", "url": "http://phospho.elm.eu.org/byAccession/O43566.html" }, { "database": "iPTMnet", "id": "O43566", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43566" }, { "database": "PubMed", "id": "12534294", "url": "https://glygen.org/publication/PubMed/12534294" } ], "site_lbl": "Ser260" }, { "start_pos": 288, "end_pos": 288, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" } ], "site_lbl": "Ser288" }, { "start_pos": 42, "end_pos": 42, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O43566", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43566" } ], "site_lbl": "Ser42" }, { "start_pos": 45, "end_pos": 45, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O43566", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43566" } ], "site_lbl": "Ser45" }, { "start_pos": 495, "end_pos": 495, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43566", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43566" }, { "database": "PubMed", "id": "12534294", "url": "https://glygen.org/publication/PubMed/12534294" } ], "site_lbl": "Thr495" }, { "start_pos": 67, "end_pos": 67, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43566", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43566" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Ser67" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Src tyrosine kinase is a novel direct effector of G proteins.", "journal": "Cell", "date": "2000", "authors": "Ma YC, Huang J, Ali S, Lowry W, Huang XY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "11007482", "url": "https://glygen.org/publication/PubMed/11007482" } ] }, { "title": "Regulators of G-protein signalling as new central nervous system drug targets.", "journal": "Nature reviews. Drug discovery", "date": "2002", "authors": "Neubig RR, Siderovski DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "12120503", "url": "https://glygen.org/publication/PubMed/12120503" } ] }, { "title": "Phosphorylation of RGS14 by protein kinase A potentiates its activity toward G alpha i.", "journal": "Biochemistry", "date": "2003", "authors": "Hollinger S, Ramineni S, Hepler JR", "evidence": [ { "database": "iPTMnet", "id": "O43566-7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43566-7" } ], "reference": [ { "type": "PubMed", "id": "12534294", "url": "https://glygen.org/publication/PubMed/12534294" } ] }, { "title": "RGS14 is a microtubule-associated protein.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2005-07", "authors": "Martin-McCaffrey Luke, Willard Francis S, Pajak Agnieszka, Dagnino Lina, Siderovski David P, D'Souza Sudhir J A", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" } ], "reference": [ { "type": "PubMed", "id": "15917656", "url": "https://glygen.org/publication/PubMed/15917656" } ] }, { "title": "The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunits.", "journal": "International journal of biological sciences", "date": "2005", "authors": "Siderovski DP, Willard FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": "https://glygen.org/publication/PubMed/15951850" } ] }, { "title": "The vertebrate phototransduction cascade: amplification and termination mechanisms.", "journal": "Reviews of physiology, biochemistry and pharmacology", "date": "2005", "authors": "Chen CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "16634148", "url": "https://glygen.org/publication/PubMed/16634148" } ] }, { "title": "Localization of the GoLoco motif carrier regulator of G-protein signalling 12 and 14 proteins in monkey and rat brain.", "journal": "Eur. J. Neurosci.", "date": "2006", "authors": "Lopez-Aranda MF, Acevedo MJ, Carballo FJ, Gutierrez A, Khan ZU", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" } ], "reference": [ { "type": "PubMed", "id": "16819986", "url": "https://glygen.org/publication/PubMed/16819986" } ] }, { "title": "Structural basis of function in heterotrimeric G proteins.", "journal": "Quarterly reviews of biophysics", "date": "2006", "authors": "Oldham WM, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "16923326", "url": "https://glygen.org/publication/PubMed/16923326" } ] }, { "title": "Structure-based protocol for identifying mutations that enhance protein-protein binding affinities.", "journal": "J. Mol. Biol.", "date": "2007", "authors": "Sammond DW, Eletr ZM, Purbeck C, Kimple RJ, Siderovski DP, Kuhlman B", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" } ], "reference": [ { "type": "PubMed", "id": "17603074", "url": "https://glygen.org/publication/PubMed/17603074" } ] }, { "title": "Localization of Gi alpha proteins in the centrosomes and at the midbody: implication for their role in cell division.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Cho H, Kehrl JH", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" } ], "reference": [ { "type": "PubMed", "id": "17635935", "url": "https://glygen.org/publication/PubMed/17635935" } ] }, { "title": "Structural diversity in the RGS domain and its interaction with heterotrimeric G protein alpha-subunits.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2008", "authors": "Soundararajan M, Willard FS, Kimple AJ, Turnbull AP, Ball LJ, Schoch GA, Gileadi C, Fedorov OY, Dowler EF, Higman VA, Hutsell SQ, Sundstrom M, Doyle DA, Siderovski DP", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" }, { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "18434541", "url": "https://glygen.org/publication/PubMed/18434541" } ] }, { "title": "Dissociation of heterotrimeric g proteins in cells.", "journal": "Science signaling", "date": "2008", "authors": "Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "18577758", "url": "https://glygen.org/publication/PubMed/18577758" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" }, { "database": "iPTMnet", "id": "O43566", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43566" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "O43566-7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43566-7" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Structural determinants of affinity enhancement between GoLoco motifs and G-protein alpha subunit mutants.", "journal": "J. Biol. Chem.", "date": "2011", "authors": "Bosch DE, Kimple AJ, Sammond DW, Muller RE, Miley MJ, Machius M, Kuhlman B, Willard FS, Siderovski DP", "evidence": [ { "database": "UniProtKB", "id": "O43566", "url": "https://www.uniprot.org/uniprot/O43566" } ], "reference": [ { "type": "PubMed", "id": "21115486", "url": "https://glygen.org/publication/PubMed/21115486" } ] }, { "title": "Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina.", "journal": "Neuron", "date": "1989", "authors": "Lerea CL, Bunt-Milam AH, Hurley JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2534964", "url": "https://glygen.org/publication/PubMed/2534964" } ] }, { "title": "Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye.", "journal": "Nucleic acids research", "date": "1989", "authors": "Van Dop C, Medynski DC, Apone LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2748346", "url": "https://glygen.org/publication/PubMed/2748346" } ] }, { "title": "Presence of three distinct molecular species of Gi protein alpha subunit. Structure of rat cDNAs and human genomic DNAs.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M, Kaziro Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2834384", "url": "https://glygen.org/publication/PubMed/2834384" } ] }, { "title": "Genetic Polymorphisms of RGS14 and Renal Stone Disease.", "journal": "Archives of medical research", "date": "2021", "authors": "Guan F, Han W, Ni T, Zhao L, Li X, Zhang B, Zhang T", "evidence": [ { "database": "RefSeq", "id": "NP_006471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006471" } ], "reference": [ { "type": "PubMed", "id": "33309307", "url": "https://glygen.org/publication/PubMed/33309307" } ] }, { "title": "Human genetic variants disrupt RGS14 nuclear shuttling and regulation of LTP in hippocampal neurons.", "journal": "The Journal of biological chemistry", "date": "2021", "authors": "Squires KE, Gerber KJ, Tillman MC, Lustberg DJ, Montanez-Miranda C, Zhao M, Ramineni S, Scharer CD, Saha RN, Shu FJ, Schroeder JP, Ortlund EA, Weinshenker D, Dudek SM, Hepler JR", "evidence": [ { "database": "RefSeq", "id": "NP_006471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006471" } ], "reference": [ { "type": "PubMed", "id": "33410399", "url": "https://glygen.org/publication/PubMed/33410399" } ] }, { "title": "RGS14 regulates PTH- and FGF23-sensitive NPT2A-mediated renal phosphate uptake via binding to the NHERF1 scaffolding protein.", "journal": "The Journal of biological chemistry", "date": "2022", "authors": "Friedman PA, Sneddon WB, Mamonova T, Montanez-Miranda C, Ramineni S, Harbin NH, Squires KE, Gefter JV, Magyar CE, Emlet DR, Hepler JR", "evidence": [ { "database": "RefSeq", "id": "NP_006471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006471" } ], "reference": [ { "type": "PubMed", "id": "35307350", "url": "https://glygen.org/publication/PubMed/35307350" } ] }, { "title": "RGS14 expression in CA2 hippocampus, amygdala, and basal ganglia: Implications for human brain physiology and disease.", "journal": "Hippocampus", "date": "2022-12-21", "authors": "Montanez-Miranda Carolina, Bramlett Sara N, Hepler John R", "evidence": [ { "database": "RefSeq", "id": "NP_006471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006471" } ], "reference": [ { "type": "PubMed", "id": "36541898", "url": "https://glygen.org/publication/PubMed/36541898" } ] }, { "title": "Mechanism of GTP hydrolysis by G-protein alpha subunits.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Kleuss C, Raw AS, Lee E, Sprang SR, Gilman AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "7937899", "url": "https://glygen.org/publication/PubMed/7937899" } ] }, { "title": "Human taste cells express the G protein alpha-gustducin and neuron-specific enolase.", "journal": "Brain research. 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